Disease-gene associations mined from literature

Literature associating ABCB6 and congenital nystagmus 5

ABCB6 [ENSP00000265316]

ATP-binding cassette sub-family B member 6, mitochondrial; Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis; Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.

Synonyms:  ABCB6,  ABCB6p,  hABCB6,  A0A024R436,  H7C1R6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM